NCT04872179

Brief Summary

This is an international prospective registry of patients with Alpha thalassemia to understand the natural history of the disease and the outcomes of fetal therapies, with the overall goal of improving the prenatal management of patients with Alpha thalassemia.

Trial Health

77
On Track

Trial Health Score

Automated assessment based on enrollment pace, timeline, and geographic reach

Enrollment
500

participants targeted

Target at P75+ for all trials

Timeline
130mo left

Started Jan 2017

Longer than P75 for all trials

Geographic Reach
1 country

1 active site

Status
recruiting

Health score is calculated from publicly available data and should be used for screening purposes only.

Trial Relationships

Click on a node to explore related trials.

Study Timeline

Key milestones and dates

Study Progress47%
Jan 2017Jan 2037

Study Start

First participant enrolled

January 1, 2017

Completed
4.3 years until next milestone

First Submitted

Initial submission to the registry

April 28, 2021

Completed
6 days until next milestone

First Posted

Study publicly available on registry

May 4, 2021

Completed
5.7 years until next milestone

Primary Completion

Last participant's last visit for primary outcome

January 1, 2027

Expected
10 years until next milestone

Study Completion

Last participant's last visit for all outcomes

January 1, 2037

Last Updated

April 4, 2025

Status Verified

April 1, 2025

Enrollment Period

10 years

First QC Date

April 28, 2021

Last Update Submit

April 2, 2025

Conditions

Alpha-ThalassemiaAlpha Thalassemia MajorAlpha Thalassemia Minor

Outcome Measures

Primary Outcomes (2)

  • Survival to birth

    Number of fetuses diagnosed with alpha thalassemia who survive to birth, compared to number of fetuses diagnosed with alpha thalassemia who have fetal demise or are terminated in utero. This is measured in number of fetuses alive at birth divided by number of all fetuses.

    6 months

  • Vineland-3 Adaptive Behavior Scale

    Results of neurodevelopmental testing using the Vineland Adaptive Behavior Scale version 3. The Vineland-3 scoring system is based on scores for three specific adaptive behavior domains: Communication, Daily Living Skills, and Socialization. The domain scores are expressed as standard scores with a mean of 100 and standard deviation of 15.

    10-15 years

Secondary Outcomes (4)

  • Gestational age at birth

    6 months

  • Mechanical ventilation

    1 year

  • Length of hospitalization

    6 months-1 year

  • Resolution of hydrops

    6 months

Eligibility Criteria

Sexall
Healthy VolunteersNo
Age GroupsChild (0-17), Adult (18-64), Older Adult (65+)
Sampling MethodNon-Probability Sample
Study Population

Patients will be either self-enrolled, or enrolled through their prenatal provider (obstetrician, genetic counselor) or postnatal provider (hematologist, pediatrician).

You may qualify if:

  • diagnosis of alpha thalassemia (prenatal or postnatal) with genotype consistent with ATM or BHFS phenotype
  • referred to the University of California, San Francisco Fetal Treatment Center for fetal diagnosis, management and/or evaluation for the ongoing in utero stem cell transplantation clinical trial

You may not qualify if:

  • \- none

Contact the study team to confirm eligibility.

Sponsors & Collaborators

Study Sites (1)

University of California San Francisco

San Francisco, California, 94143, United States

RECRUITING

Related Publications (2)

  • Kreger EM, Singer ST, Witt RG, Sweeters N, Lianoglou B, Lal A, Mackenzie TC, Vichinsky E. Favorable outcomes after in utero transfusion in fetuses with alpha thalassemia major: a case series and review of the literature. Prenat Diagn. 2016 Dec;36(13):1242-1249. doi: 10.1002/pd.4966. Epub 2016 Dec 7.

    PMID: 27862048BACKGROUND

  • Schwab ME, Lianoglou BR, Gano D, Gonzalez Velez J, Allen IE, Arvon R, Baschat A, Bianchi DW, Bitanga M, Bourguignon A, Brown RN, Chen B, Chien M, Davis-Nelson S, de Laat MWM, Ekwattanakit S, Gollin Y, Hirata G, Jelin A, Jolley J, Meyer P, Miller J, Norton ME, Ogasawara KK, Panchalee T, Schindewolf E, Shaw SW, Stumbaugh T, Thompson AA, Towner D, Tsai PS, Viprakasit V, Volanakis E, Zhang L, Vichinsky E, MacKenzie TC. The impact of in utero transfusions on perinatal outcomes in patients with alpha thalassemia major: the UCSF registry. Blood Adv. 2023 Jan 24;7(2):269-279. doi: 10.1182/bloodadvances.2022007823.

    PMID: 36306387DERIVED

MeSH Terms

Conditions

alpha-Thalassemia

Condition Hierarchy (Ancestors)

ThalassemiaAnemia, Hemolytic, CongenitalAnemia, HemolyticAnemiaHematologic DiseasesHemic and Lymphatic DiseasesHemoglobinopathiesGenetic Diseases, InbornCongenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

  • Tippi C MacKenzie, MD

    University of California, San Francisco

    PRINCIPAL INVESTIGATOR

Central Study Contacts

Billie Lianoglou, LCGC

CONTACT

(415) 476-2461billie.lianoglou@ucsf.edu

Study Design

Study Type
observational
Observational Model
COHORT
Time Perspective
PROSPECTIVE
Target Duration
30 Years
Sponsor Type
OTHER
Responsible Party
SPONSOR

Study Record Dates

First Submitted

April 28, 2021

First Posted

May 4, 2021

Study Start

January 1, 2017

Primary Completion (Estimated)

January 1, 2027

Study Completion (Estimated)

January 1, 2037

Last Updated

April 4, 2025

Record last verified: 2025-04

Data Sharing

IPD Sharing
Will not share

Locations

US(1)